DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for congenital generalized lipodystrophy type 3

Congenital generalized lipodystrophy type 3 [DOID:0111137]

A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

Synonyms:  congenital generalized lipodystrophy type 3,  DOID:0111137,  Berardinelli-Seip congenital lipodystrophy type 3,  BerardinelliSeip congenital lipodystrophy type 3

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.